Sex-linked recessive inheritance in Charcot-Marie-tooth disease with partial clinical manifestations in female carriers

Hum Genet. 1980;55(3):413-5. doi: 10.1007/BF00290228.

Abstract

A large kindred with sex-linked recessive inheritance of Charcot-Marie-Tooth disease is presented. Partial clinical manifestations without functional disability and decreased nerve conduction velocity was demonstrated in the female heterozygotes.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Aged
  • Charcot-Marie-Tooth Disease / genetics*
  • Female
  • Genes, Recessive*
  • Heterozygote
  • Humans
  • Male
  • Muscular Atrophy / genetics*
  • Neural Conduction
  • Pedigree
  • Sex Chromosomes*
  • X Chromosome*